Huntington’s Disease Research

Stem cells have amazing promise for making replacement tissues and organs. However, while that application might be some years in the future, stem cells have already proved to be a welcome breakthrough for neurodegenerative disease research. This is particularly true for a specific type of stem cells called induced pluripotent stem cells or iPSCs that were discovered by Gladstone investigator Shinya Yamanaka.


Huntington’s disease (HD) is a debilitating fatal disease caused by a mutant gene that that has a repeating sequence. In general, the more repeats, the earlier the onset of the disease is. However, the length of the repeated sequence accounts for only part of the variability of the age of onset. Could other factors be involved? Dr. Julia Kaye and her team at the Taube-Koret Center use a technique called whole-genome sequencing to try to find pieces of DNA called genetic modifiers that are involved in coding as well as non-coding proteins that might modify the age of onset. They hope to identify new genetic modifiers to help them understand the factors that determine age of onset in HD and shape the search for HD therapies down the road.

Having grown up in a coastal town, the smell of the ocean evokes strong memories. Images of days in the sun, sounds of the crashing waves, the feeling of sand between my toes, the taste of salt water, and the joy of a relaxing afternoon replay in my mind’s eye like a faded home movie of experiences long since passed. The power of memory allows us to create and access a mental representation of the world, or to be swept up in the emotions of previous events. What is this ability to store and access information?

The human nervous system is incredibly complex. With careful experimental design, we generate simpler models of the brain in the laboratory. Models come in many forms, including using cancer cell lines, primary cells (taken directly from an animal and grown in a dish), and whole animal models.  Every model has its strengths and weaknesses, but so far, no model has produced effective drug treatments for most neurodegenerative diseases. Because of this, we have turned to an emerging and exciting new model system that uses human stem cells.

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